ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
ARHGAP22 | - | - |
GRCh38 GRCh37 |
69 | 156 | |
C10orf53 | - | - | - |
GRCh38 GRCh37 |
2 | 87 |
C10orf71 | - | - | - |
GRCh38 GRCh37 |
22 | 108 |
CHAT | - | - |
GRCh38 GRCh37 |
950 | 1283 | |
DRGX | - | - |
GRCh38 GRCh37 |
1 | 87 | |
ERCC6 | - | - |
GRCh38 GRCh37 |
1521 | 1930 | |
FAM170B | - | - | - |
GRCh38 GRCh37 |
- | 112 |
FRMPD2 | - | - |
GRCh38 GRCh37 |
87 | 173 | |
LRRC18 | - | - |
GRCh38 GRCh37 |
- | 105 | |
MAPK8 | - | - |
GRCh38 GRCh37 |
21 | 107 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 20, 2018 | RCV000845659.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022